Purpose :
Stickler syndrome (hereditary arthro-ophthalmopathy) is a dominantly inherited connective tissue disorder with ocular, orofacial, auditory, and skeletal manifestations. The majority of families with Stickler syndrome have mutations in the gene encoding type II collagen (COL2A1) that exhibits a characteristic ‘membranous’ or type 1 vitreous phenotype. A novel mutation in the gene encoding the α1 chain of type XI collagen (COL11A1) was reported in a Stickler syndrome pedigree with a different ‘beaded’ or type 2 vitreous phenotype. We report ophthalmic and systemic characteristics of 11 family members with a COL11A1 mutation.

Methods :
The family described is the four-generation family with 18 family members having the COL11A1 mutation, that was originally reported in the Am J Hum Genet paper1 with genetic mutation of deletion in the nucleotide A in -2 position of intron 14( del A-2IVS14). Retrospective chart review was performed on 11 affected family members.

Results :
There were 18 affected family members of the pedigree who carried a COL11A1 gene mutation. The 17 year-old proband had optically empty vitreous with radial perivascular lattice degeneration in both eyes. The father and mother of the proband are first cousins both carrying the gene mutation. Among the affected family members, 100% had optically empty vitreous with perivascular radial lattice degeneration, 63.6% (7/11) had retinal detachment, 81.8% (9/11) had cataract, and 27.2% (3/11) had glaucoma. Of note, there was one patient with retinal degeneration and extinguished ERG and one patient with night blindness. Systemic manifestation showed short stature, high arch palate, hearing loss, obesity, rheumatoid arthritis, and hypertrophic cardiomyopathy.